Year: 1965 Source: New England Journal of Medicine, v.273, no.3, (1965), p.130-135 SIEC No: 19832341

Clinical, biochemical & genetic observations are described in 2 separate families with 3 young boys affected by a syndrome consisting of severe choreoathetosis dating from early infancy, self-mutilative behavior & persistent elevation of the levels of uric acid in blood & urine. Six other males in 1 kindred had died in early childhood after a similar clinical syndrome.